Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next—Generation Sequencing
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s13312-020-1853-3.pdf
Reference21 articles.
1. Bernardini L, Alesi V, Loddo S, Novelli A, Bottillo I, Battaglia A, et al. High-resolution SNP arrays in mental retardation diagnostics: How much do we gain? Eur J Hum Genet. 2010;18:178–85.
2. Manning M, Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010;12: 742–5.
3. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus Statement: Chromosomal Microarray is a First-tier Clinical diagnostic Test for Individuals With Developmental Disabilities or Congenital Aanomalies. Am J Hum Genet. 2010;86: 749–64.
4. Snijders AM, Nowak N, Segraves R, Blackwood S, Brown N, Conroy J, et al. Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet. 2001;29: 263–4.
5. Beaudet AL. The utility of chromosomal microarray analysis in developmental and behavioral pediatrics. Child Dev. 2013;84: 121–32.
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent;The Journal of Molecular Diagnostics;2024-06
2. De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India;European Journal of Human Genetics;2023-12-20
3. Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence;Health Policy;2022-04
4. Relevant Principles of Next-Generation Sequencing;Hans Journal of Biomedicine;2022
5. Cancer gene recognition from microarray data with manta ray based enhanced ANFIS technique;Biocybernetics and Biomedical Engineering;2021-07
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3